BRCA2 Chromosome 13

BRCA2 DNA repair associated
8590 variants 8590 Health Risk

Upload your DNA to see your personal genotypes for variants in BRCA2.

What This Gene Does
Inherited mutations in BRCA1 and this gene, BRCA2, confer increased lifetime risk of developing breast or ovarian cancer. Both BRCA1 and BRCA2 are involved in maintenance of genome stability, specifically the homologous recombination pathway for double-strand DNA repair. The largest exon in both genes is exon 11, which harbors the most important and frequent mutations in breast cancer patients. The BRCA2 gene was found on chromosome 13q12.3 in human. The BRCA2 protein contains several copies of a 70 aa motif called the BRC motif, and these motifs mediate binding to the RAD51 recombinase which functions in DNA repair. BRCA2 is considered a tumor suppressor gene, as tumors with BRCA2 mutations generally exhibit loss of heterozygosity (LOH) of the wild-type allele. [provided by RefSeq, May 2020]
Gene Info
Gene Group
FA complementation groups
Locus Type
gene with protein product
Location
13q13.1
Ensembl
ENSG00000139618
Associated Conditions (95)
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer
familial
susceptibility to
2
8 conditions
BRCA2-related cancer predisposition
Familial cancer of breast
Hereditary cancer
Fanconi anemia complementation group D1
Breast and/or ovarian cancer
1
Breast neoplasm
Malignant tumor of urinary bladder
BRCA2-related disorder
Malignant tumor of breast
Familial pancreatic carcinoma
Familial colorectal cancer type X
Familial prostate cancer
+75 more conditions
Key Variants
RS1000398743
Conflicting classifications of pathogenicity
Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
Health Risk
RS1005568368
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
Health Risk
RS1006688520
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
Health Risk
RS1007336407
Conflicting classifications of pathogenicity
Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
Health Risk
RS1010143466
Conflicting classifications of pathogenicity
Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
Health Risk
RS1015087797
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome, BRCA2-related cancer predisposition
Health Risk
RS1020818778
Conflicting classifications of pathogenicity
Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
Health Risk
RS1023705162
Conflicting classifications of pathogenicity
Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
Health Risk
RS1028371302
Conflicting classifications of pathogenicity
Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
Health Risk
RS1032226790
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Familial cancer of breast, Breast-ovarian cancer
Health Risk
RS1036091086
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
Health Risk
RS1036870835
Conflicting classifications of pathogenicity
Fanconi anemia complementation group D1, Breast-ovarian cancer, familial
Health Risk
All Variants (8590)
RSID Category Clinical Significance Conditions
RS1064794115 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS1064794168 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer, familial
RS1064794337 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS1064794377 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS1064794521 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS1064794550 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS1064794647 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Breast-ovarian cancer, familial
RS1064794708 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS1064794812 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS1064794821 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS1064794921 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS1064795043 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS1064795072 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS1064795172 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS1064795216 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Breast-ovarian cancer, familial
RS1064795469 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS1064795500 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer, familial
RS1064795578 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS1064795789 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS1064795851 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS1064795884 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS1064795934 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS1064796073 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS1085308035 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS1085308037 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS1085308038 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS1131692035 Health Risk Pathogenic Breast neoplasm, Breast-ovarian cancer, familial
RS1131692274 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS1135401890 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS1135401891 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS1135401892 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer, familial
RS1135401893 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS1135401894 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer, familial
RS1135401898 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS1135401899 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer, familial
RS1135401900 Health Risk Pathogenic BRCA2-related disorder, Breast-ovarian cancer, familial
RS1135401901 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer, familial
RS1135401902 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS1135401903 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS1135401904 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS1135401905 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS1135401906 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS1135401907 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS1135401910 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer, familial
RS1135401912 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS1135401914 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS1135401915 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer, familial
RS1135401916 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS1135401917 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS1135401918 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
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